Canonical Allele Identifier: CA380833738

Gene: BEST1

Linked Data

• ClinVar Variation Id: 812229
• ClinVar RCV Id: RCV001002888 ; RCV001860520
• dbSNP Id: rs1591280714
• MyVariant Identifiers: chr11:g.61722644T>A (hg19) ; chr11:g.61955172T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61955172T>A , CM000673.2:g.61955172T>A	GRCh38
NC_000011.9:g.61722644T>A , CM000673.1:g.61722644T>A	GRCh37
NC_000011.8:g.61479220T>A	NCBI36
NG_009033.1:g.10289T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378043.9:c.218T>A MANE Select	ENSP00000367282.4:p.Ile73Asn
ENST00000378043.8:c.218T>A	ENSP00000367282.4:p.Ile73Asn
ENST00000449131.6:c.38T>A	ENSP00000399709.2:p.Ile13Asn
ENST00000524877.5:n.134T>A
ENST00000524926.5:c.218T>A	ENSP00000432681.1:p.Ile73Asn
ENST00000526988.1:c.-146T>A	ENSP00000433195.1:n.-146T>A
ENST00000529265.5:n.141T>A
ENST00000533521.5:n.326T>A
ENST00000534553.5:c.-146T>A	ENSP00000431189.1:n.-146T>A
NM_001139443.1:c.38T>A	NP_001132915.1:p.Ile13Asn
NM_001300786.1:c.38T>A	NP_001287715.1:p.Ile13Asn
NM_001300787.1:c.38T>A	NP_001287716.1:p.Ile13Asn
NM_004183.3:c.218T>A	NP_004174.1:p.Ile73Asn
XM_005274210.2:c.218T>A	XP_005274267.1:p.Ile73Asn
XM_005274216.2:c.38T>A	XP_005274273.1:p.Ile13Asn
XM_005274218.3:c.-146T>A	XP_005274275.1:n.-146T>A
XM_005274219.2:c.218T>A	XP_005274276.1:p.Ile73Asn
XM_005274221.2:c.218T>A	XP_005274278.1:p.Ile73Asn
XM_011545229.1:c.218T>A	XP_011543531.1:p.Ile73Asn
XM_011545230.1:c.125T>A	XP_011543532.1:p.Ile42Asn
XM_011545231.1:c.-146T>A	XP_011543533.1:n.-146T>A
XM_011545232.1:c.218T>A	XP_011543534.1:p.Ile73Asn
NM_001363591.1:c.-287T>A	NP_001350520.1:n.-287T>A
NM_001363592.1:c.218T>A	NP_001350521.1:p.Ile73Asn
NM_001363593.1:c.-1144T>A	NP_001350522.1:n.-1144T>A
NR_134580.1:n.798T>A
XM_005274210.4:c.218T>A	XP_005274267.1:p.Ile73Asn
XM_005274215.4:c.-287T>A	XP_005274272.1:n.-287T>A
XM_005274216.4:c.38T>A	XP_005274273.1:p.Ile13Asn
XM_005274219.4:c.218T>A	XP_005274276.1:p.Ile73Asn
XM_005274221.4:c.218T>A	XP_005274278.1:p.Ile73Asn
XM_011545229.3:c.218T>A	XP_011543531.1:p.Ile73Asn
XM_011545230.3:c.125T>A	XP_011543532.1:p.Ile42Asn
XM_017018230.2:c.-287T>A	XP_016873719.1:n.-287T>A
XR_001747952.2:n.716T>A
XR_001747953.2:n.908T>A
XR_001747954.2:n.908T>A
XR_002957249.1:n.2566A>T
NM_004183.4:c.218T>A MANE Select	NP_004174.1:p.Ile73Asn
NM_001139443.2:c.38T>A	NP_001132915.1:p.Ile13Asn
NM_001300786.2:c.38T>A	NP_001287715.1:p.Ile13Asn
NM_001300787.2:c.38T>A	NP_001287716.1:p.Ile13Asn
NR_134580.2:n.331T>A